A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977467



Internal ID18612673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52133693..52141372hg38UCSC Ensembl
Innerchr14:52600411..52608090hg19UCSC Ensembl
Innerchr14:51670161..51677840hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387680
hg197680
hg187680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1986470, nssv1986471, nssv1986466, nssv1986472, nssv1986469, nssv1986468, nssv1986467, nssv1986474, nssv1986465, nssv1986473
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977467
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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